17-beta hydroxysteroid dehydrogenase 3 deficiency

Term ID

DOID:0112248

Synonyms

• 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• 17-ketoreductase deficiency
• 17-ketosteroidreductase deficiency
• 17-KSR deficiency
• 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• male pseudohermaphroditism with gynecomastia
• neutral 17-beta-hydroxysteroid oxidoreductase deficiency

Definition

A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. (3)

References

• GARD:5659
• OMIM:264300
• ORDO:752

Ontology

Human Disease   ( DOID:0112248 )